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Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia

Bone Reports, 2023-12, Vol.19, p.101707, Article 101707

2023

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Burosumab Therapy in Children with X-Linked Hypophosphatemia

The New England journal of medicine, 2018-05, Vol.378 (21), p.1987-1998

2018

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Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia

Bone Reports, 2016-12, Vol.5, p.158-162

2016

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A Randomized, Double‐Blind, Placebo‐Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti‐FGF23 Antibody, in Adults With X‐Linked Hypophosphatemia: Week 24 Primary Analysis

Journal of bone and mineral research, 2018-08, Vol.33 (8), p.1383-1393

2018

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Corrigendum to “Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation” [Bone Rep. 9 (2018) 154-158]

Bone Reports, 2020-06, Vol.12, p.100252-100252, Article 100252

2020

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Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

Bone Reports, 2018-12, Vol.9, p.154-158

2018

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Severity of reduced bone mineral density and risk of fractures in long‐term survivors of childhood leukemia and lymphoma undergoing guideline‐recommended surveillance for bone health

Cancer, 2020-01, Vol.126 (1), p.202-210

2020

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Circulating Levels of Leptin and Lipocalin-2 in Patients With X-Linked Hypophosphatemia

Journal of the Endocrine Society, 2023-10, Vol.7 (11), p.bvad116-bvad116

2023

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Description of 5 Novel SLC34A3/ NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria

Kidney international reports, 2019-08, Vol.4 (8), p.1179-1186

2019

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A Clinician's Guide to X‐Linked Hypophosphatemia

Journal of bone and mineral research, 2015-02, Vol.30 (2), p.394-394

2015

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Single Dose Of Bisphosphonate To Treat Infantile Hypercalcemia

AACE clinical case reports, 2017-01, Vol.3 (3), p.e246-e250

2017

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Media calcium attenuates mitochondrial 1,25(OH)2D production in phosphorus or vitamin D-deprived rats

Pediatric research, 1995-06, Vol.37 (6), p.726-730

1995

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An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis

AACE clinical case reports, 2016-01, Vol.2 (4), p.ee278-ee283

2016

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SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta

Journal of the Endocrine Society, 2020-05, Vol.4 (Supplement_1)

2020

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Excluding Digenic Inheritance of IPGAP2/I and IPGAP3/I Variants in Mabry Syndrome

Genes, 2023-01, Vol.14 (2)

2023

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SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome

Journal of the Endocrine Society, 2020-05, Vol.4 (Supplement_1)

2020

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Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia

Journal of the Endocrine Society, 2021-05, Vol.5 (Supplement_1), p.A27-A27

2021

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Burosumab Provides Sustained Improvement in Phosphorus Homeostasis and Heals Rickets in Children Aged 1 to 4 Years With X-Linked Hypophosphatemia (XLH)

Journal of the Endocrine Society, 2021-05, Vol.5 (Supplement_1), p.A251-A251

2021

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OR29-06 Burosumab Improves Biochemical, Skeletal, and Clinical Features of Tumor-Induced Osteomalacia Syndrome

Journal of the Endocrine Society, 2020-05, Vol.4 (Supplement_1)

2020

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Proceedings of the 2020 Rare Bone Disease Working Group

JBMR plus, 2021-01, Vol.5 (S1), p.S1-S7

2021

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OR29-01 Long-Term Safety in Adults with X-Linked Hypophosphatemia (XLH) Treated with Burosumab, a Fully Human Monoclonal Antibody Against FGF23: Final Results of a Phase 3 Trial

Journal of the Endocrine Society, 2020-05, Vol.4 (Supplement_1)

2020

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Editorials: Oncogenic osteomalacia--a complex dance of factors

The New England journal of medicine, 2003-04, Vol.348 (17), p.1705

Carpenter, Thomas O

2003

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A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc

American journal of physiology. Renal physiology, 2008, Vol.64 (2)

2008

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A translocation causing increased [alpha]-Klotho level results in hypophosphatemic rickets and hyperparathyroidism

Proceedings of the National Academy of Sciences - PNAS, 2008-03, Vol.105 (9), p.3455

2008

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Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia

Bone reports, 2023, Vol.19, p.101707-101707

2023

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Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia

Burosumab Therapy in Children with X-Linked Hypophosphatemia

Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia

A Randomized, Double‐Blind, Placebo‐Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti‐FGF23 Antibody, in Adults With X‐Linked Hypophosphatemia: Week 24 Primary Analysis

Corrigendum to “Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation” [Bone Rep. 9 (2018) 154-158]

Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

Severity of reduced bone mineral density and risk of fractures in long‐term survivors of childhood leukemia and lymphoma undergoing guideline‐recommended surveillance for bone health

Circulating Levels of Leptin and Lipocalin-2 in Patients With X-Linked Hypophosphatemia

Description of 5 Novel SLC34A3/ NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria

A Clinician's Guide to X‐Linked Hypophosphatemia

Single Dose Of Bisphosphonate To Treat Infantile Hypercalcemia

Media calcium attenuates mitochondrial 1,25(OH)2D production in phosphorus or vitamin D-deprived rats

An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis

SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta

Excluding Digenic Inheritance of IPGAP2/I and IPGAP3/I Variants in Mabry Syndrome

SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome

Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia

Burosumab Provides Sustained Improvement in Phosphorus Homeostasis and Heals Rickets in Children Aged 1 to 4 Years With X-Linked Hypophosphatemia (XLH)

OR29-06 Burosumab Improves Biochemical, Skeletal, and Clinical Features of Tumor-Induced Osteomalacia Syndrome

Proceedings of the 2020 Rare Bone Disease Working Group

OR29-01 Long-Term Safety in Adults with X-Linked Hypophosphatemia (XLH) Treated with Burosumab, a Fully Human Monoclonal Antibody Against FGF23: Final Results of a Phase 3 Trial

Editorials: Oncogenic osteomalacia--a complex dance of factors

A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc

A translocation causing increased [alpha]-Klotho level results in hypophosphatemic rickets and hyperparathyroidism

Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia

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